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rs587783606

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783606(A;A)
Make rs587783606(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48524074
GeneEBP
is asnp
is mentioned by
dbSNPrs587783606
ebirs587783606
HLIrs587783606
Exacrs587783606
Varsomers587783606
Maprs587783606
PheGenIrs587783606
hapmaprs587783606
1000 genomesrs587783606
hgdprs587783606
ensemblrs587783606
gopubmedrs587783606
geneviewrs587783606
scholarrs587783606
googlers587783606
pharmgkbrs587783606
gwascentralrs587783606
openSNPrs587783606
23andMers587783606
23andMe allrs587783606
SNP Nexus

SNPshotrs587783606
SNPdbers587783606
MSV3drs587783606
GWAS Ctlgrs587783606
Max Magnitude0
ClinVar
Risk rs587783606(A;A)
Alt rs587783606(A;A)
Reference rs587783606(T;T)
Significance Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant
Reversed 0
HGVS NC_000023.10:g.48382462T>A
CLNSRC
CLNACC RCV000145930.1,